Congenital anomalies are structure formation errors, or disturbed chemical function due to metabolic deficiency (342-26,29). Apgar estimatedthat 1:15 children born today has an inborn defect (18,19). Physical anomalies are visible on inspection (overt), or hidden by soft tissue (occult). Common and less frequent loci for human skeletal aberrations are indicated in Figure 7.1. In primitive settings inborn physical or chemical anomalies incompatible with survival are usually eliminated naturally.
Figure 7.1. Location of human skeletal anomalies.
Inborn metabolic abnormalities involve utilization of carbohydrates, lipids (fat), pigments, and minerals. Abnormal metabolites may be stored, excreted, or absent. Some deviant metabolic processes are gene transmitted, some are sporadic occurrences.
By definition development is the process of growth and differentiation. Developmental anomalies can appear pre- or post-natally; those after birth can be inborn or from intravital stimulae.
In the past and today in primitive groups inborn and developmental abnormalities were/are attributed to evil influences. In ethnocentric societies inheritance is an accepted explanation.
Figure 7.2. Figurine with lip and palate cleft, from central Mexico, displayed by Monasterio.
However, clinical observations and laboratory experiments have demonstrated factors that are capable of injuring the fetus and causing abnormalities (teratogens).
Anomalies are inherited through gene transmission (genotype), or are started by some stimulus at the appropriate time in embryogenesis when developing structures are vulnerable (phenotype). Stimuli that can produce phenotype anomalies are physical, chemical, or microbiological. Alteration in formation and development of bone can appear during embryogenesis, or be manifest as dysplasias later during life (213-431). Axiomatically, if congenital or developmental abnormalies are in one part of the embryonic body, other structures forming at the same time may also be defective.
Table 7.1. Congenital and Developmental Anomalies, Miscellaneous Collections
39WW7 39WW1 39DW2 39RO2 39CL2 32BL18
Swan Four Double N.D.Hist. Over
Site________Creek___Mobridge___Bears___DeSpiegler___Ufford____Ditch____Society*__Coll.____Other___Total
Culture Arik Arik Arik Woodland Woodland Mandan? Several Several Several
Skeletons 82 55 41 est. 50 40 est. 24 151 228 241 912
Anomaly
Macro- -- -- -- -- -- -- -- 1 1 2
cephaly
Palate cleft, -- -- -- -- -- -- -- 1 -- 1
non-odonto-
genic cyst
Mandible -- 1 -- -- -- -- -- -- -- 1
asymmetry
Maldevelop. -- -- -- -- -- 1 -- -- 1 2
sinuses
Assimilation -- -- -- -- -- -- -- 2 -- 2
C-1
Paracondy- 1 17 6 1 1 -- -- 57 3 86
loid proc.
Extra artic. 1 -- -- -- -- -- -- 2 1 4
facet C-1
Vert. fusion -- T T -- -- -- -- C,C,C C 6
Neural arch S -- S,S -- -- -- -- L-S,S, C&S, 11
defect C,S,L, S
S
Sep. neural S,L-S -- -- -- -- -- -- L-S,S, L,L-S, 11
arch L-S,L, L
L,L
Sacraliza- -- -- -- -- -- -- -- 5 4 9
tion L-5
Lumbariza- 1 -- 1 -- -- -- -- 1 -- 3
tion S-1
Tibia-fib- -- -- -- -- -- -- -- 1 -- 1
ula fused______________________________________________________
Total 6 19 10 1 1 1 -- 85 16 139
* Analysis limited to skull primarily.
C= cervical, T= thoracic, S= sacral.
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The Present.
In 18,811 Indian and Eskimo births at U.S. PHS Hospitals July 1964 through June 1966, 174
infants had single malformations that usually involve bone, and 40 had multiple
malformations or syndromes that can affect bone. The number of individuals with bone
involvement in the latter group was not stated. The rate of congenital anomalies in live
births and grossly normal stillbirths was 2.02%. Comparable studies cited showed similar
abnormalities in 1.58% White, and 2.44% of Negro live births (3).
The best demographic information about inborn anomalies in Missouri River Basin Native Americans relates to the craniofacial area. In 1963 cleft lip and palate were in 1:276 Montana Native American live births; the general population ratio was 1:583 (326).
Table 7.2. Congenital and Developmental Anomalies, Salvage and Miscellaneous Collections*
39SL4 39CO9 39WW2 39WW1 Ntl.Museum 39CO32 Ntl.
Leaven- Hrdlicka Museum
Site________Sully__worth___Larson__Mobridge__Mobridge____Nordvold__Dakota__Other____Total
Culture Arik Arik Arik Arik ? Arik Arik Dak Several
Skeletons 429 313 685 404 102 17 144 108 2172
Anomaly
Macro- -- -- 1 -- -- -- 2 -- 3
cephaly
Maldevelop. -- -- 1 1 1 -- -- -- 3
sinuses
Micrognathia -- -- -- -- -- -- 1 -- 1
Microtia 1 -- 3 -- -- -- 2** -- 6
Assimilation 2 -- 1 -- -- -- 1 -- 4
C-1
Paracondy- 10 2 40 27 2 -- 8 -- 89
loid proc.
Platybasia ? -- -- -- -- -- -- 2 -- 2
Venous anom.
skull base 1 -- -- -- -- -- -- -- 1
Neural arch S,S, S S,S,S,S, S,S -- -- -- S 14
defect S,L S,S
Sternal hole -- -- -- 1 -- -- -- -- 1
Tibia-fib- 1 -- -- -- -- -- -- -- 1
ula fused_____________________________________________
Total 19 3 52 31 3 -- 16 1 125
* Analysis emphasized skull.
** One skull included fusion malleus to tympanic ring.
T= thoracic, S= sacral.
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A preliminary field study report (1964) concerning the Wet Bones project by Tupper and co-workers showed South Dakota Native American school children had manifest lip and/or palate cleft in 1:220, and occult cleft (submucous, bifid uvula) were in 1:149, making the overall rate of occult and overt clefts 1:89 (328) (Ch. 3, Epilogue).
South Dakota 1981 birth certificate data indicated congenital facial clefting in 1:1105 live births (298), comparable to ratios in the United States, which ranged from 1:550 (49-49) to 1:600-1:1250 live births (255-1027). At the same time the birth certificate rate for Native Americans was 1:512 (William Johnson, Vital Statistics Division, South Dakota Health Dept., Personal communication, 1982).
The apparent discrepancy between Tupper's findings and the 1981 South Dakota Health Department data are explained by the fact that Tupper's data came from clinical examination, not birth certificate data that frequently are of questionable validity (123) (See Ch. 7, Epilogue).
Other investigators also found craniofacial fissural defects to be more common in Native American tribes than in the general population (216-322).
Comparison of Adams and Niswander's total data base (3) to Upper Missouri Basin observations was not possible, but using orofacial fusion defects as an index, their results are similar to ours relating to present day regional Native Americans (See Ch 7, Epilogue). Adams and Niswander did not refer specifically to facial structures in 21 cases that could have had facial clefting, but the frequency of facial clefts they reported (40/18,811= 1:470) is very close to the rate indicated by the 1981 South Dakota Vital Statistics, and the findings of Tretsven (326) and Tupper (328).
The Past.
No historical reference was available relating to inborn aberrations in the ancient Upper
Missouri River Basin. Hrdlicka (167-58,190) reported concerning southwestern U.S. Indians
in 1908: "The only instance of congenital abnormalities among the San Carlos Apache
learned of by the writer were a harelip and a case of imperforate anus. When a deformity
is considerable, the infant is usually allowed to die." This report is especially
important because today the facial cleft rate in Apache Indians is one of the highest in
the U.S. (G.B. De Blanc, Otolaryngology Dept., U.S.P.H.S. Hospital, Gallup, NM, Personal
communication).
A symposium on congenital and developmental anomalies was scheduled for the 1979 annual Paleopathology Association (PPA) meeting, but did not come to fruition for lack of participants(Paleopathology Newsletter No. 26, p. 3). The symposium's failure was interpreted as due to the dearth of exemplary specimens for presentation and discussion. A symposium on this topic took place at the 1983 PPA meeting. Despite concerted efforts to stimulate interest, only six papers were forthcoming. The unenthusiastic response again reflected the limited stimulus to research, most likely from inadequate "clinical material "with which to work, and around which to base a symposium.
Reasons to explain the disparity between past and present in manifest anomalies might include survival of the fittest, active or passive euthanasia of the deformed with corporeal disposal other than in the communal burial areas, or non-existence. Although the latter supposition is attractive, it is not realistic biologically.
Despite the high frequency of cranio-facial anomalies in Native Americans in the Dakota Territory and elsewhere today, few reports of skulls with facial clefts are in the literature pertaining to the Americas. Brooks and Hohenthal described and illustrated three defective palate crania from California (59). A Louisiana Caddoan multiple burial contained a 39-44 year old female and a 2-4 year old child, presumed mother and child, both with cleft palate (316). Gilkey described defective palate crania in the U.S. National Museum. An adult female and a child were from Peru, the third was an adult Pueblo Indian female (113). A fourth cleft palate cranium from Point Hope, Alaska, was reported at the Smithsonian Institution (L. Angel, Personal communication, 1977). Sullivan alluded to a complete unilateral cleft palate skull at the A.I. Dupont Institute in Wilmington, DE. (310).
Table 7.3. Anomalies, Crow Creek Skeletons
CRANIOFACIAL_AREA
Bones
Abnormality____Location__counted__Number
Hemifacial
microsomia Mandible 131 1
Asymmetry rami Mandible 131 1
Abnormal
styloid Temporal 963 2
Skull base,
fusion C-1 Cervical 1165 1
Paracondyloid
process Occipital -- 49
Anomalous
dentition* Maxilla 129 9
Mandible 131 2
Others**______________--______--_____16___
Total 81
* Absent, malpositioned, accessory, fused teeth.
** Metopic suture; squamosal suture premature
closure; occipital- double articular facet
C-1; mandible- bifid head- 3; accessory max-
illary sinus; dental pearls- 8; odontoid process
articulation foramen magnum- ? platybasia.
From: Zimmerman et al, 1980, pp. 254-256.
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At the first International Congress on Cleft Palate in Houston, Monasterio displayed defective palate crania and figurines depicting facial defects from, Mexico (Fig. 7.2) (221). It was reported that such figurines, and skulls with craniofacial anomalies, were not unusual to central Mexico archaeology, suggesting that affected individuals were assisted to survive, and perhaps revered.
Berndorfer observed a cleft alveolar ridge in a 500-year-old South Hungary skull (43). Skoog reported a terracotta head from Corinth dating to the fourth century B.C., into which was carved a complete left cleft lip (297). Brothwell and Powers discussed inborn anomalies and their effect upon skeletal populations, and noted that facial clefting was not common in European skeletons (61). Ortner and Putschar (246-346), and Manchester (206-28,31,32), discussed briefly and illustrated defective palate crania.
Table 7.4. Anomalies, Crow Creek Skeletons
SPINAL
Bones
Abnormality______________________________Location____Counted__________Involved
Bifid_processes- - - - - - - - - - - - Cervical 1165 13
Thoracic 3498 1
Sacral (S-1) 396 1
Vertebral_fusion - - - - - - - - - - - Cervical 1165 6
Thoracic 3498 12
Scoliosis- - - - - - - - - - - - - - - Thoracic 3498 12
Lumbar 1694 16
Individual_arch_defects Absent Partial Separate
Cervical C- 1 1 -- -- 1165 1
C- 3 -- 1 -- -- 1
C- 6 1 -- -- -- 1
Lumbar L- 3 -- -- 1 1694 1
L- 4 -- -- 1 -- 1
L- 5 -- -- 38 -- 38
Lumbo- L-5, S-1 -- -- 3 1694/396 6
sacral L-5, S-1,2 -- -- - -- 1
S-1 -- 6 1 396 7
S-1,2 -- 8 -- -- 8
S-1,2,3,4,5 -- 2 -- -- 2
S-1,4,5 -- 5 -- -- 5
S-1,5 -- 2 -- -- 2
S-2,3 1 -- -- -- 1
S-2,3,4,5 1 -- -- -- 1
S-3,4,5 12 1 -- -- 13
S-4,5 11 -- -- -- 11
Articulations, neural_arch_defects Absent Partial Separate
S-4,5 C-3,S-2 L-5,S-1 5
S-2,3,4,5 -- L-5,S-1 2
S-4,5 -- L-5,S-1 2
S-2,3,4,5 -- S-1 1
S-2 -- S-1 1
S-2 -- S-1 1
S-2,4,5 -- S-1 1
S-2,4,5 -- S-1 1
______________________________________S-3,4,5___________--__S-1_____________1__
Total 176
From: Zimmerman et al, 1980, pp. 276-278.
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Infrequent representation from antiquity in North America is true also for overt and disabling post-cranial anomalies. Ubelaker stated that congenital anomalies are rare in ancient human skeletons (332), but he apparently referred to manifest, disabling disorders, because occult inborn anomalies are frequent (11-135;41;55;60-173;225-30;235;246-346).
STATISTICAL EVIDENCE.
Information pertaining to inborn abnormalities in regional skeletal collections and salvage archaeology specimens is in Tables 7.1 and 7.2. In both groups of skeletons paracondyloid processes were most fre- quent, followed by neural arch defects.
Table 7.5. Anomalies, Crow Creek Skeletons
VERTEBRAL_ASSIMILATION, and other
Bones
Abnormality____________________________________Number_________________Involved
Vertebral assimilation, complete
Sacralization L-5, isolated defect 3 6
Lumbarization S-1, isolated defect 1 2
Sacralization L-5, and associated 6 12
neural arch defect
Lumbarization S-1 and associated 3 6+
neural arch defects
Vertebral assimilation, partial
Sacralization L-5, isolated defect 5 10
Lumbarization S-1, isolated defect 5 10
Sacralization L-5 and associated 5 10+
neural arch defect
Lumbarization S-1 and associated 16 32+
neural arch defect__________________________________________________________
Total 88+
OTHER ANOMALIES
Synostosis, proximal radius and ulna 2 4
Sternum, perforation 1 1
Humerus, absent medial epicondyle 1 1
Hip dislocation, child 1 1
Femur, distal, vascular anomaly 1 2
Fibula, nutrient artery anomaly 1 1
Rib, anomaly 1 1
Thoracic vertebra body defect, bilateral 1 1
Tibia,_absent_facet_for_fibula____________________1_______________________1___
From: Zimmerman et al, 1980, pp. 254-256.
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Much of the early Dry Bones survey effort was directed toward craniofacial problems, so information in these tables is skewed and does not lend itself to statistical analysis. Subsequent investigation revealed more postcranial anomalies.
The most comprehensive analysis for inborn anomalies was performed on the pre-1492 Crow Creek skeletons (Tables 7.3, 7.4, 7.5) (143,361). Because of skeletal disarticulation and missing or fragmented bones, it was not possible to relate the 385 anomalies to individuals, but obviously a large proportion of the villagers had inborn or developmental abnormalities.
Anomalies in Missouri Basin skeletons were malformations (structural defects from localized morphogenesis error, e.g., spina bifida occulta; genotype or phenotype), or deformations (altered shape and/or structure of previously normally formed parts; usually phenotype). None were anomalads (malformations with subsequently derived structural changes, e.g., Robin syndrome; more commonly genotype), or malformation syndromes (recognized patterns with the same apparent cause, not the consequence of single localized errors in morphogenesis, e.g., Down's syndrome [mongolism]; genotype deformities).
Some disabling anomalies were not obvious until a child lived for an interval. In an aboriginal society such infant could be accepted into the community, and then given life support when the defect became obvious later in life. The few manifest anomalies that were in Dakota Territory skeletons probably were not disabling at birth and were accepted by peers and treated as normal.
Table 7.6. Craniovertebral Junction Anomalies,
2500 Dakota Territory Skulls
Abnormality________________________Number___%__
Macrocephaly 5 0.2
(adult- 2, child- 3)
Assimilation atlas, 6 0.24
complete/partial (adult)
Assimilation, atlas, 7 0.28
complete/partial &
paracondyloid process
(adult)
Skull base deformity 3 0.12
(? platybasia)
Paracondyloid process, 54 2.16
unilateral*
Tiny (1-2 x 1-2 mm) 23
Small (2-5 x 1-4 mm) 22
Medium (5-10 x 2-5 mm) 6
Large ( > than 10 x 5 mm) 3
Paracondyloid process, 93 3.72
bilateral
Tiny 41
Small 40
Medium 12
* Paracondyloid process was in adult & child
skulls, mostly adults. Because of skeletal
incompleteness, number and % are minimum
occurrance.
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In present day Eskimo and Indian newborns recognizable abnormalities involved bone in 214/350 (61%) individuals with anomalies (3). If congenital aberrations occurred in North American aborigines as they do in today's Native Americans, the probability is good that many soft tissue and bone anomalies were in people who lived in the region in the past. For technical reasons (skeletal preservation, mortuary practices, mechanical problems, Ch. 1), it has not been possible to look for in ancient skeletons some congenital anomalies involving bone, cited by Adams and Niswander as common in Native American newborns to-day (clubfoot, polydactyly, syndactyly, atropic fingers, "lobster claw" hands and feet) (3).
METABOLIC DISEASE.
Histiocytosis X, a condition characterized by abnormal lipid storage was discussed and illustrated in Chapter 6. No other metabolic process of developmental origin was identified during the Dry Bones survey. STRUCTURAL DEFECTS.
Macrocephaly. Five skulls with supra normal intracranial capacity came from the Dakota Territory, Table 7.6. They were from burials in geographically separated locations, and different cultures and periods in time.
Figure 7.3. Wormian (Inca) bones, occipital fontannel.
Two U.S. National Museum skulls were adults, indicating extended survival. These were
identified by Hrdlicka.
Skull One. 227-508, male, 35-40 yr., intracranial capacity= 1865 cc.
Skull Two. 243-369, female, 16-18 yr., intracranial capacity= 1775 cc.
The others came from different South Dakota skeletal groups.
Skull Three. Hofer Mound 39HT2, Hutchinson County, SD, child 3-4 yr., Cranial capacity=
1335 cc (177).
Skull Four. Larson Site 39WW2, F201, B100, child, 4 yr., Cranial capacity 1325 cc.
Skull Five. Sully Site, 39SL4, 9926, child, 6-7 yr., cranial capacity 1425 cc.
Macrocephaly (hydrocephalus). Skull Five (Fig.7.4- right) is compared with a normal child's skull of the same age (intracranial capacity 1,025 cc). Widening of the affected skulls's interparietal and parietal- occipital sutures (Fig. 7.4- lower) indicates stretching accompanying head growth. Macrocephaly was evident during this child's life, and may have been accompanied by functional deficit.
Hydrocephalus can be inborn, sequel to meningitis or brain tumor, or it may follow head trauma complicated by impaired cerebrospinal fluid dynamics, leading to increased intracranial pressure. It is not possible to tell the cause of this specific problem, but it is apparent the child lived for an extended interval.
Figure 7.4. 39SL4 Sully Site. Arikara child 6-7 yr. (dental age).
Accessory intra-suture ossification (wormian or Inca bones) in an adult female skull (Fig. 7.3) mimics the sutural stretching with hydrocephalus but is confined to the occipital fontannel.
Morse discussed briefly and illustrated the macrocephalic skull of a 6 yr. old child (225-128). Macrocephaly is discussed and illustrated, but no American examples, in Brothwell and Sandison (62-428,509,556).
Microcephaly and premature suture closure have not been identified here. Cradle board deformities were on a number of skulls, but there has been no evidence of purposeful cranial deformation.
BASICRANIUM ABNORMALITIES.
Assimilation (fusion) of the atlas to the skull base, deformity in the foramen magnum area, and paracondyloid process, were the three craniovertebral junction anomalies we found. Paracondyloid process (bony excrescence) protruded from the occipital bone's extracranial surface between the foramen magnum and the mastoid process, posterior to the foramen jugulare (Fig. 7.5) (54).
Figure 7.6. Cranio-vertebral junction
anomalies.
A. 39MC1 Montrose Mounds. Over Collection #18152. Woodland male 21-27 yr.
B. U.S. National Museum 243-338. Sioux female 18-20 yr.
C. 39SL4 Sully Site #9838. Arikara male 22-26 yr.
D. 39WW2 Larson Site. Arikara male 35-40 yr.
E. U.S. National Museum 243-825. Sioux male 40-45 yr.
F. U.S. National Museum 225-218. Sioux female 35-40 yr.
The skull in Figure 7.6A with a prominent paracondyloid process (arrow) that articulated with the first cervical vertebra (C-1), was an isolated specimen. Bilateral hollow paracondyloid processes, an unusual bony collar around the foramen magnum, and diminutive articular facets were findings in 7.6B. In 7.6C, the anterior half of C-1 was fused to the skull base. A marker in the foramen between C-1 and the occipital bone points to an anomalous bone spur at the foramen magnum edge. A large paracondyloid process articulated doubly with C-1 in 7.6D. In 7.6E, small bilateral paracondyloid processes fused C-1 to the skull base. A broad, dense left process fused C-1 firmly to the skull base; a small process with anomalous articulation was on the right (7.6F). Note skull base asymmetry also. In 7-6G, the skull base lateral to the foramen magnum was depressed and asymmetrical, moreso on the anatomic right side, suggesting platybasia. Another paracondyloid process in the skull of a child murdered at Crow Creek appears in Figure 1.24. Two additional small paracondyloid processes were alluded to but not illustrated in the discussion relating to Figure 7.13.
In 984 Dry Bones skulls, three (0.3%) had craniovertebral junction anomalies. Two first cervical vertebra were assimilated; one had a large paracondyloid process (139,301).
Figure 7.6G. U.S. National Museum 225-239. Sioux male 45+yr.
Figure 7.7. 39BF11 Crow Creek. Proto-Arikara male adult.
Another report of 2,500 adult skulls showed paracondyloid processes to be unilateral in 54 skulls (2.16%) and bilateral in 93 (3.72%). Partial or complete assimilation of the atlas was in 6 skulls (0.24%); paracondyloid process and total or partial assimilation of the atlas were in 7 skulls (0.28%); skull base deformity, probably platybasia, was in 3 skulls (0.12%) (Table 7.6) (143).
Of the Crow Creek skulls 37/486 (7.6%) had paracondyloid processes and one had fusion of the atlas to the skull base (0.2%).
Williams presented the findings in a 30 year old North Dakota Woodland female skeleton with a large paracondylar process and other anomalies in the basicranium (352). Torgersen discussed craniovertebral border variability and reported that Stiemens found paracondyloid processes in 0.25% of 56,000 Bolk Collections skulls (Amsterdam). In the Screiner Collections (Oslo) 1/619 (0.16%) "Lapps" skulls had atlas assimilation and paracondyloid process; three had paracondyloid process (0.11%). In non-Lapps skulls, one (0.04%) had atlas assimilation with paracondyloid process. Torgerson cited Russell, who found paracondyloid processes in 0.47% of 1,155 American Indian skulls, Akabori (1.2% of408 Japanese skulls), Sjwetschnikow (0.58% of 4,000 Russian skulls, and Blomquist (1.67% of Finnish Lapps skulls), and stated, "The relative high frequency of cases with paracondyloid process - a derivation of the proatlas - is remarkable. Assimilation tends to occur in cases with hypoplasia of the atlas and the first occipital - particularly a spina bifida and a basilar impression producing the pic- ture of 'les hommes sans cou" (a man without a neck)" (324-396).
Findings relating to cranial base anomalies in Missouri Basin skulls differ from Morse's in Illinois. He found atlas/skull base fusion to be uncommon (225-32). The difference suggests the possibility of a genotype difference in skull base and upper cervical vertebra formation and development in the two skeletal populations.
Special attention was given to the craniovertebral region during Dry Bones research for two reasons: 1. the higher frequency of anomalies in this anatomic location in regional skulls, and those Russell examined (283), as compared Morse's findings in Illinois; and 2. the clinical observation that many patients with congenital palato-pharyngeal anomalies also had upper cervical spine and skull base anomalies (247;265;266;342-908). Facial anomalies are frequent in today's Aberdeen Area Native Americans (Ch. 7, Epilogue), so valuable information could come from evaluation of the cranio-vertebral junction in Indians with facial clefts, and their relatives. For socioeconomic and ethnic reasons such study is not imminent.
TEMPORAL BONE, Styloid Process.
Matching adult temporal bones (Fig.7.7) had styloid processes that far exceed usual in
size (diameter right= 7 mm). Concomitant anomalies were not identifiable. Usually the
slender tapered process is about 2.5 cm long and 1-2 mm in diameter. Elongated styloids,
i.e., >2.5 cm in length, were in a number of regional skulls, but nothing similar to
Fig. 7.7 was found elsewhere.
External auditory canal and middle ear.
Microtia (small outer ear canal). Unilateral microtia was combined with fusion of the
malleus' tip to the tympanic ring (Fig. 7.8, arrow) in a young child's temporal bone.
Also, the anterior malleolar ligament was ossified, fusing this portion to the tympanic
ring. No other abnormalities were in this skull (211). Hearing in the affected ear would
have been reduced by this anomaly, and the possibility is good the outer ear was
malformed.
Figure 7.8. U.S. National Museum, 243-376. Sioux child 1-2 yr.
Figure 7.9. 39BF11 Crow Creek. Proto-Arikara male adult.
This is the only such anomaly we saw, and nothing similar is reported in the paleopathology literature. Other instances of microtia were in specimens evaluated during this project (Table7.2). Arensburgh and co-workers reported findings in a skeleton from Israel with congenital fusion of the malleolar head to the tegmen tympani (middle ear roof) (20). External ear deformities are in 1% of births today (214). In 18,811 Eskimo and Indian newborns, Adams and Niswander found nine instances of microtia with absent external auditory canal (0.048%) in 350 newborns with congenital anomalies (2.6%) (3). Alone or as part of several malformation syndromes various forms of auricular maldevelopment are frequent in Dakota Territory Native Americans today.
MANDIBLE HYPOPLASIA (? Mandibulofacial dysostosis).
Unilateral deformity of congenital origin in an isolated adult mandible (Fig. 7.9) included hypoplasia of the ascending ramus, malformed head, and asymmetry. A full complement of adult dentition tooth sockets was present, and wear patterns were similar on remaining teeth. This mandible represents the Grade I variation deformity encountered in hemifacial microsomia ("Andy Gump" deformity) described by Calderelli et al. As such, this individual had an 86% chance of ossicular deformity (malleus/incus) and a 90% chance of external ear deformity, if congenital anomalies were associated in the 14th century as they are today (65). Lack of anatomic continuity precluded assay for other abnormalities. This is the only such anomaly found during Dry Bones research.
Alexandersen stated that hemifacial atrophy is found occasionally in skulls and cited Gejval who reported a skull deformity that could have been of infectious or traumatic origin (6). Dahl and Bjork discussed two East Indian skulls exhibiting anomalies compatible with incomplete mandibulo facial dysostosis. This report contained no pertinent provenience (86). No other reports of this congenital anomaly have been found in the available paleopathology literature.
Mandible ramus asymmetry.
Figure 7.10. 39BF11 Crow Creek. Proto-Arikara male adult.
The heads differed in height by 2.5 cm in an isolated mandible (Fig. 7.10). Tooth wear pattern was similar bilaterally suggesting little functional disturbance during life. A similar less pronounced deformity was in Over Museum Collection #11411 (39WW1, Mobridge Site, Arikara male 30-35yr.).
Caldwell and Gerhard reported arrested condylar growth causing mandibular agenesis as rare, but it may come from localized growth disturbance, or be part of the first branchial arch syndrome. The former may be caused by intrauterine compression, injury at birth or subsequent trauma, or infection (66). Rogers noted that differences between the mandible's sides are quite frequent (280). Alexandersen discussed but did not illustrate mandibular asymmetry (6-551).
ANOMALOUS DENTITION.
Faulty dentition of congenital or developmental origin is discussed and illustrated in
Chapter 8.
FACIAL MALDEVELOPMENT.
Cleft lip and palate and nonodontogenic fissural cysts come from defective facial
development that may be genotypic or phenotypic.
Figure 7.11. Facial skeleton: A. Anterior view. B. Basal view. Loci of nonodontogenic cysts.
Either or a combination of two processes are instrumental in their formation: 1. failure of fusion between and among the premaxilla, maxillary palatine processes, and the vomer of the nasal septum (Fig. 7.5); or 2. breakdown of the palate, alveolus, or lip, regressing to the previous unfused status. During life face and palate aberrations present as gross defects, bifid uvula, or deficient soft palate musculature. Occult defects can be posterior hard palate notch, high arched palate, or incomplete lip and anterior gingival margin defects.
Similarly, nonodontogenic (not of dental origin) fissural cysts form where facial components fuse, (Fig. 7.5, 7.11). Incomplete resorption of embedded epithelial remnants within the palate after fusion (enclaving) or delayed development of growth centers predispose to these cysts (37,38). Nonodontogenic fissural defects appear in the midline or laterally.
Table 7.7. Nonodontogenic Cyst, Non-epithelial
Cyst (pseudocyst) of Jaws*
_________________________Number____%____1/N___
Median palatine, 20 7.41 1:1000
median alveolar
Globulomaxillary 46 17.05 1: 435
Nasoalveolar 7 2.59 1:2857
Fissural 11 4.07 1:1818
(unclassified)
Nasopalatine (incisive 147 54.44 1: 136
canal, papilla pala-
tina)
Traumatic 35 12.96 1: 571
Aneurysmal_bone_____________4_____1.48__1:5000
Total 270 100.00
* Adapted from Bhaskar 1977, p. 225. Based on
personal clinical, radiological, microscopic, and
followup data, >29,000 cases.
1/N= occurrance frequency 20,000 cases.
|
Median alveolar, nasopalatine (incisive canal), median palatal, and dermoid (epidermoid, teratoid) cysts form in the midline where the palatine processes fuse. Nasolabial (nasoalveolar, nasoglobular) and globulomaxillary cysts are lateral in lines of pre-maxilla-maxilla-palatal fusion. Developmental aberrations producing lip and palate clefts and lateral and medial nonodontogenic fissural cysts are similar, as are the anatomic loci of both abnormalities (128).
The frequency of nonodontogenic facial cysts (Table 7.7) (45) is similar to that of lip and palate abnormalities in the U.S. general population and the Aberdeen Area Native Americans today. No information is available concerning the rate with which fissural cysts occur in people in this region today.
The Dry Bones specimens were from diverse sources, limiting demographic information obtainable.
Facial anomalies, anatomic specimens.
Figure_7.12. A South Dakota collector specimen with no provenience had two hard palate
defects hypothe- sized of congenital origin (301), but D.R. Brothwell postulated infection
as more likely (Personal commu- nication) (See Ch. 3). Dental asymmetry is on the left
side anteriorly.
Figure 7.13. A disturbed burial on bluffs above the Niobrara River mouth in northeastern Nebraska con- tained remnants of unknown cultural affiliation, but were possibly historic Ponca (1750-1825) (Robert Alex, Office of South Dakota State Archaeologist, Ft. Meade, SD, Personal communication) (128).
Figure 7.12. Anthropology Dept., University of Kansas, Lawrence #5309. Culture ? male adult.
There were five palatal-facial and basicranial anomalies: 1. asymmetry of the nasal floors (3 mm); 2. an 8 x 11 mm midline defect in the posterior border of the high, thin, arched hard palate, extending through the palatine bones' horizontal plates to the vomerine-palatal junction; 3. an 11 x 18 mm oval cystlike defect with smooth edges and base in the hard palate's canine-premolar region. About 1/3 of the right palatine surface was involved by this defect, which communicated with the adjacent maxillary sinus and extended anteriorly and medially, separating the maxillary palatine processes, the incisor crest, and the anterior nasal spine; 4. a round, smooth walled cyst (10 mm) on the right gingival margin where premaxilla and maxilla fuse; 5. Moderate sized paracondyloid processes (not ilustrated) were present.
In addition, there was extensive antemortem loss of teeth, alveolar ridge remodeling, and inflammatory reaction on the left maxillary arch, the alveolus' periostial surface, and the nasal bones, primarily the right. Multiple deep parturition pits in the pubic symphysis indicated the likelihood of one or more pregnancies.
Figure 7.13. Over Collection # 4625. ? Ponca female 32-38 yr.
Figure 7.14. 39WW2 Larson Site. Arikara male 40 yr.
Figure 7.14. Inborn anomalies included mild nasal floor asymmetry (1.5 mm), malformed maxillar central incisor teeth and tooth sockets, open nasopalatine foramen and an abortive median alveolar cyst, and nonfusion of the maxillary palatine processes and part of the palatine bones. In the midline the posterior palatine processe were thickened and there was a small palatin torus. Nasal septal deflection, dental caries and tooth occlusal surface wear were incidental findings.
Figure 7.15A. A circular midline defect (9 mm) with smooth margins and base, occupied the incisive foramen, where premaxilla and palate fuse.
Figure7.15B. On the superior alveolus periostial surface where premaxilla and maxilla fuse, an oval shaped smooth defect was inserted between the lateral incisor and canine tooth roots, separating them slightly, but not involving the teeth.
INTERPRETATION of facial anomalies.
Structural defects in Figures 7.12 through 7.15 all represent aberrations in facial morphogenesis. In 7.15A, the abnormality was a nasopalatine cyst, reported the commonest midline nonodontogenic palatine cyst (54%) (45), probably unrecognized during life. Other smaller patent nasopalatine foramina have been observed in regional skulls.
Lesions in Figures 7.13 and 7.15B are nasoalveolar fissure defects that comprise 2.6% of nonodontogenic cysts (45). These are usually asymptomatic unless infected or traumatized.
In Figure 7.13, the large palatine defect's location typifys a globulomaxillary cyst.
The open incisive canal extending anteriorly into the intermaxillary central incisor tooth space in Figure 7.14, combined with an abnormal incisor tooth within the canal, indicate combined odontogenic and nonodontogenic origin (median alveolar cyst and anomalous dentition). Nasal asymmetry and defective fusion of maxillary palatine processes in Skulls 7.13 and 7.14, and the posterior hard palate notch in 7.13, indicate faulty facial bone development, producing three different nonodontogenic fissural defects.
Anatomic findings in Figure 7.13 were an abortive palatal cleft, accompanied by two nonodontogenic fissural cysts (globulomaxillary and nasoalveolar).
The palate cleft could have presented as: 1. no obvious defect; 2. submucouscleft palate (deficient muscle development); 3. bifid uvula with or without submucous soft palate cleft; or 4. cleft posterior palate. It is likely the palatal cleft was occult during life. Absent anterior tooth socket markings may indicate faulty tooth development and early loss.
Findings in these specimens indicate the individuals achieved adulthood and one, Figure 7.13, had at least one child. Some disability could have accompanied these problems, but it was not enough to preclude longevity. Facial inflammation complicated the ante-mortem inverval for the individual represented in Figure 7.13, but whether this contributed to her demise is conjectural.
Diagnostic considerations for facial abnormalities illustrated included odontogenic cysts and tumors, dental and sinus infections, neoplasms, and sequellae of physical trauma.
A probable medial palatine cyst was in the palate of a Kentucky-Virginia-Tennessee triangle late Woodland (about 1550 A.D.) female skull, and two nasoalveolar and one globulomaxillary cysts were in the skull of middle Mississippian male 32-37 yr old from the Averbush Site, TN (128).
Salama and Hilmy (284) reported a probable globulomaxillary cyst in an ancient Egyptian skull, but other specific references were not in the paleopathology literature. Three specimens in the San Diego Hrdlicka Paleopathology Collection, 1915-2-101, 1915-2-102, and 1915-2-103, may be nasoalveolar fissural cysts, rather than dental abscesses (329). It is probable other skeletal collections have skulls with nonodontogenic fissural defects, interpreted as dental abscess or tumor. For this reason, abnormalities in the zones of facial fusion need careful appraisal.
In intact and fragmented skulls and in radiographs paranasal sinus development varied, but the variability was commensurate with findings in clinical medicine today. No consistent pattern of absent or accessory sinuses was apparent.
Aberrant sinus development.
Supernumerary pneumatization. Small excrescences containing accessory sinuses
connected to the anterior ethmoids (Ager nasi cells) (Figs. 7.17A, 7.17B) (296), protruded
from the anterior maxillary surfaces near the root of the nose. Pneumatization extended
from the maxillary sinus into the zygomatic bone in one adult Crow Creek skull (Table
7.3**).
Ethmoid, lamina papracea deficiency. Openings in the ethmoids' orbital surface plates (Figs. 7.16A,B) indicate that only a membrane separated the nose and sinus from the orbit. Vigorous nose blowing with upper respiratory infections may rupture this plate, allowing infections to spread into the orbit, potentially leading to intracranial dissemination and meningitis. Similar defects appeared slightly more frequently than 1:1000 in skulls from the region that had identifiable lamina papracea. Spina bifida (defective bony covering over the neural canal).
Clinical application of the development and diseases of the paranasal sinuses has been investigated extensively, but their function in humans remains conjectural (52). Early-on Skillern described anatomic variations in their pneumatization (296). Koertvelyessy (188) reported larger frontal sinus surface area means for a mixed sample of Arikara and Zuni Indian skulls than was found by Hanson and Owsley in two Eskimo populations (152). Possibilities as cause for the difference include genetic difference and adaptation to a cold environment. Wells (346b,348b) reported maxillary sinus disease with complications in antiquity. Otherwise, little was available regarding paranasal sinus paleopathology.
Figure 7.19. Spina bifida manifesta, location in 295 clinical cases.
Anomalies in the human spine are common today. Included are vertebral assimilation (atloido-occipital [discussed previously], first sacral lumbarization, fifth lumbar sacralization); fusion; defective formation; and absent or aberrant neural arches. Opinion differs whether aberrant posterior neural arches are congenital or developmental. Kohler believes they are developmental because they do not exist at birth (189); Stewart feels inheritance is more likely (307) (see Ch. 6, Arthritis and Osteoporosis).
Spina bifida, probably the most serious inborn spinal defect, is occult or manifest, the prognosis for survival being influenced by the degree of anomaly (Fig. 7.18). Hydrocephalus and central nervous system dysfunction often complicate spina bifida manifesta. Austin and associates reported 295 clinical cases with spina bifida manifesta, the largest number in the lower thoracic and lumbo-sacral spine, Figure 7.19 (29). Their findings relating to the location of spinal anomalies today correlate well with observations regarding occult spinal anomalies in dry bones we have examined. In ancient skeletons, spina bifida manifesta was not identified. Lumbo-sacral anomalies in various regional skeletal collections are in Tables 7.1 and 7.2. In the 486 Crow Creek skeletons there were 264 spinal anomalies, the majority in the lumbar and sacral areas (Tables 7.4 and 7.5).
Cervical Rib.
Figure 7.20. 39ST235 Stony Point, Over Collection #17476. Arikara female 25-30 yr.
One 7th cervical rib was identified in this skeletal series (Fig. 7.20). Bones in both upper extremities were normal and no other abnormality was seen. By compression of blood vessels and the brachial plexus cervical rib can cause neurological damage and trophic change in an affected extremity. Finnegan reported a skeleton from Kansas with unilateral atrophy of the arm bones, attributed to a cervical rib (106).
Vertebral fusion.
Cervical vertebrae were fused at various levels in 6/2500 (0.24%) of the general skeletal population, and 3/486 (0.62%) of the Crow Creek specimens (Table 7.4). None involved more than two vertebrae (Fig. 7.21E).
The Klippel-Feil syndrome is an inborn condition, defined as "essentially an extensive fusion of the cervical spinal segments" (259-81), characterized by varyable fusion, shortening, and scoliosis of the cervical spine. Morse stated that occasionally fusion or lack of segmentation occurs in the cervical vertebrae, mentioned the Klippel-Feil syndrome, but reported no cases (225-32). Wade accepted involvement of as few as two cervical segments in Eskimo skeletons as Klippel-Feil variants, significantly increasing the frequency of this deformity (337-155). Zimmerman and Kelley reported its frequency as 1/30,000-40,000 (364-27).
Crow Creek inborn thoracic fusions (6 instances) each involved two vertebrae (12/3498, 3.43%), and two two-segment mid thoracic fusions were in other skeletons (Table 7.1).
Occult vertebral anomalies.
Typical hidden vertebral defects in adult skeletons included:
Figure 7.21A. (upper and lower two views of same specimen) L-5 bifid spinous process and
partial sacrali- zation;
7.21B. C-2 odontoid process bifid and bone spur in foramen magnum posteriorly; 7.21C. L-4
separate neural arch;
7.21D mid-thoracic vertebral pedicle fusion;
7.21E midcervical fusion with malformed bodies;
7.21F mid-cervical incomplete posterior neural arch.
None of these should have caused functional disturbance during life.
Lumbo-sacral region anomalies in adult skeletons (Fig. 7.22) included:
7.22A. separate neural arches L-4,5,S-1 and partial sacralization of L-5;
7.22B. separate neural arches L-5,S-1;
7.22C seven sacral segments (sacralization L-5 and coccyx-1);
7.22D. adult sacrum, complete spina bifida occulta;
7.22E. four sacral segments (lumbarization S-1).
These anomalies were occult during life and the affected individuals should have had no
debility. However, with posterior neural arch defects (spondylolysis) in the lumbo-sacral
region, spondylolisthesis has been a complication in some instances (Ch. 6) (57).
Lumbo-sacral area abnormalities and spina bifida occulta were evaluated in a group of proto-historic Modoc Indians (41).
Vertebral anomalies
Figure 7.21A. 39HT2 B-2 Hofer Mound,
Culture ? male adult.
7.21B. 39SL4 Sully Site. Arikara male 22-26 yr.
7.21C. 39WW1 Mobridge Site. Arikara adult.
7.21D. 39SL4 Sully Site. Arikara female adult.
7.21E. 39WW1 Mobridge Site. Arikara male 45 yr.
7.21F. 39BF11 Crow Creek. Proto-Arikara adult, sex ?
Anomalies in the upper and lower extremities included synostoses (fusion of two or more bones), and hip dislocations, probably of congenital origin.
Figure 7.23. 39BF11 Crow Creek. Proto-Arikara adult, sex ?
Synostosis.
Figure 7.24. 39ST235 Stony Point, Over Collection #4619. Arikara female 35 yr.
Adult proximal radius-ulna synostosis, a right and a left, were found separated by 0.75 meter in the Crow Creek mass burial (Fig. 7.23). The bony fusions were smooth with no evidence of trauma or inflammation. Radiographs showed interweaving of medullary trabecular patterns indicating developmental origin for the defects. Although the two synostoses resembled each other grossly and in radiographs, it was impossible to determine if the bones had their origin in one or two individuals. During life these forearms had limited pronation-supination function, but the abnormalies did not preclude extended survival.
Proximal and distal right tibia-fibula synostosis was in an Over Collection skeleton (Fig.7.24, Table 7.1). In addition, the odontoid process of this skeleton's second cervical vertebra had an anomalous articulation anterior to the foramen magnum.
Another congenital right distal tibia-fibula fusion was in a 35 yr. old Arikara male skeleton (Sully Site #9423) (Table 7.2).
Morse found two examples of proximal radioulnar synostosis in the Dickson Mounds Collection (Crable Site), both on the left (225-33). Grant observed a prehistoric infant's skelton with congenital radio-ulnar synostosis (122). Ubelaker illustrated and discussed a forearm synostosis from Mobridge, SD, and stated that this anomaly is not common (332).
The two forearm synososes and the tibia-fibula fusions reported here, and the forearm specimen from Mobridge reported by Ubelaker (332) were in adult skeletons from different geographic locations, and separate eras in time spanning 500 years, indicating phenotypic anomalies.
Hip dislocation.
Degenerative hip joint changes, probably residua of unilateral congenital dislocations, were in three skeletons. One was a 6-7 year old child (Fig. 7.25), the second was late teen age, probably a male (Fig. 7.26). A third hip dislocation was in an adult male skeleton, but this appeared more characteristic of a traumatic process (Ch. 2, Fig. 2.13).
Figure 7.25. Grossly and in radiographs the fragmentary right innominate bone and proximal femur of a child's skeleton have angulation deformity of the femoral neck, attrition of the femoral head, and destruction of the acetabulum. Degenerative joint changes are clearly visible on both surfaces of the hip joint.
Altered medullary trabecular architecture, and marked cortical thinning in the radiograph are commensurate with atrophy of disuse and secondary osteoporosis (Ch. 5, 6). This specimen is interpreted as congenital hip dislocation of long duration. Although this defect would have been accompanied by functional deficit and discomfort, the child survived until murdered, indicating the availability of life support. Congenital hip dislocation often is unrecognized until a child begins to stand and walk, about 7-8 months of age. This anomaly escaped detection early in life but when it became apparent the child was protected.
Perthe's disease (osteochondrosis of the capital femoral epiphysis, cause unknown, possibly vascular disturbance) and traumatic dislocation are diagnostic considerations for this abnormality. Figure 7.26. Compared to other skeletons from the same site the right innominate bone and femur of a teen aged male skeleton (proximal and distal tibial epiphyseal closure but open iliac crest epiphysis) were somewhat small for age, but structurally normal otherwise. The left femoral head was completely resorbed and the acetabulum had been totally destroyed. A rudimentary neoacetabulum had formed as an accessory articulation between the innominate bone and the medial surface of the proximal femur. There was cystic degeneration within the rudimentary left pubic bone.
Figure 7.25. 39BF11 Crow Creek. Proto-Arikara child 6-7 yr.
The left femur was 6 cm shorter than the right, smaller in diameter, and the bone was atropic. Radiographs showed severe osteoporotic changes in the left hemi-pelvis and femur, manifested by extreme thinning of the cortices and almost complete distortion and loss of medullary trabecular patterns. The gross and radiographic alterations in bone structure in the left hemipelvis and lower extremity are compatible with osteoporosis of disuse (Ch. 5).
In addition degenerative changes were on the articular surfaces of both navicular bones, moreso on the right, suggesting unusual ambulatory stress on the ankles brought on by altered left hip dynamics. Severe degenerative changes were on the left scapula's articular surface, commensurate with abnormal stress on the shoulder joint from pressures by a crude unpadded crutch.
In other bones from this skeleton osseous development was about normal. The abnormality displayed is interpreted as that of long standing disability caused by degenerative hip joint disease. Although traumatic disclocation early in life and Perthe's disease must be considered, the delayed bone growth on the left side, the total destruction of the femoral head and the acetabulum, the severe osteoporosis, and the statistical likelihood, implicate congenital hip disease as cause (Lynn Deitrick, Anthropology Department, University of Tennessee, Knoxville, Personal communication).
It is obvious that this individual endured disability and discomfort, but survived into young adulthood. The length of survival demonstrates that he was not abandoned by family or contemporaries, and that life support was available to him until his death.
The two probable congenital hip abnormalities in these skeletons occurred 300 years apart in time and were separated 130 miles geographically. They are considered phenotype anomalies.
The hip joint is the most frequent site of congenital dislocation. The left side is involved 3:2; females are affected 6-10 times more often than males. Hip dislocation may not be noticeable at birth, but becomes apparent during the first year of life (259-88).
Figure 7.26A,B. 39CA4. Rygh Site Arikara male ? young adult. Radiographs, pelvis and femora.
Although Mcintosh and coworkers reported congenital hip dislocation and dysplasia in 1.3 per 1000 New York City livebirths (212), Rabin and associates found 10.9 per 1,000 among Navajo Indians living in Arizona. The practice of strapping children to cradle boards early in life was suggested as an important factor in the frequency of hip dislocation in Navajo children (268).
Clinically, congenital hip anomalies appear slightly more frequently in South Dakota Native American children (Conrad Blunck, Orthopedic Surgeon, Rapid City, SD, Consultant USPHS Indian Hospital, Rosebud, SD, Personal communication), but good statistical data are not available relating to the frequency of hip anomalies in North and South Dakota Indians today. The use of cradle boards is not frequent on the Indian reservations in the Dakota Territory today, but the posterior cranial flattening and deformity in some aboriginal skeletons suggest the use of cradle boards in the past.
Morse discussed congenital hip dislocation and showed two cases, bilateral hip dislocations in a 10 yr. old child, and an adult female skeleton with unilateral hip dislocation (225-9,32,92). Clabeaux reported three prehistoric cases with congenital hip dislocation from the north east (78).
Figure 7.26. 39CA4. Rygh Site. Arikara male ? young adult. C- F.
Multiple bones from same skeleton. Defects include, loss of femoral head (C-1, D-1), destruction of left acetabulum (D-2), poor de- velopment of left innominate bone, cystic change left pubic bone (D-3), bone spur with accessory articulating facet (D-4), erosion of ar- ticular surface both navic- ular bones from feet (E- arrow) and joint surface of left scapula (F- arrow). Pathological changes were were interpreted as long standing congenital hip dislocation, aseptic necrosis left femoral head, faulty articulation between femur and pelvis, altered gait, and probable use of a crude crutch.
Figure 7.27. 39WW1 Mobridge Site. Arikara male 25-30 yr.
Figure 7.28. 39WW7 Swan Creek, Over Collection, #2188. Arikara male 25-30 yr.
Sternal anomaly. The sternum from an adult skeleton (Fig. 7.27) had a foramen in the 4th and 5th segments. In addition the manubrium was malformed and fused to the sternal body. No other abnormality was in the skeleton. During Dry Bones research three other adult sternal foramina were seen, all from different sites and different periods in time.
Several deviations can accompany development of the sternum. These include sternal foramen, fissura sterni, and variable fusion of the manubrium, body, and xyphoid process. Lewis (198-116) reported that sternal foramina are found most often in the third and fourth pieces of the body, and are a rare occurrance (209).
Rib anomaly. The only aberrant rib we encountered (Fig. 7.28), was an adult left 7th rib, bifid anteriorly. This was an Over Collection specimen without provenience. An additional anomaly in the skeleton was absent neural archs for the last three sacral segments.
Preservation of the ribs has been poor in many Dakota Territory skeletons, and early archeologists in the region often did not collect them, making an assay for rib pathology and anomalies tenuous.
Rib anomalies include supernumerary ribs at either end of the thoracic cage, missing ribs, or developmental variation. Morse reported rib anomalies in 7:1000 X Rays of selective service registrants in World War II. Only one of 452 individuals with cervical rib (2:1000) had symptoms attributable to the deformity. In Morse's opinion, true congenital rib anomalies can be considered inconsequential (225-32). Cervical rib has been discussed previously (See Fig. 7.20 and text).
Many occult and a few manifest inborn and developmental anomalies were in Upper Missouri Basin aboriginal skeletons. Several anomalies were accompanied by cosmetic problems, and during life several should have produced disability. The presence of a few skeletons with cosmetic or functional aberrations indicates that the anomalies occurred and the afflicted individuals survived in a hostile environment. Most manifest anomalies probably were not recognized immediately after birth, or for some reason the individuals' contemporaries assisted them to survive.
The types and anatomic loci of inborn anomalies in ancient skeletons were similar to those in skeletons of people living today. Technical problems in archeology, i.e., skeletal preservation, type of burial, and mechanical difficulties during exhumation (Ch. 1), prevented identification of many congenital anomalies reported by Adams and Niswander to be frequent in present day Native Americans (club foot, polydactyly, syndactyly, atropic fingers, and "lobster claw" hands and feet) (3). In addition, the possibility exists that the bodies of deformed aboriginal infants may not have reached the community cemetery.
Of the anomalies we found all were malformations or deformities and none could be classified as anomalads or malformation syndromes. Despite historical reference to consanguinity and incest in the Arikara, (90) (Ch. 8) the type and location of anomalies in Arikara skeletons are not different from those in other skeletal populations. The anomalies found in all skeletal groups appear to be phenotypic rather than genotypic.
Although lip and palate clefting occur frequently in today's Dakota Territory Native Americans (Ch. 7, Epilogue), such anomalies have been notably absent in aboriginal skeletons from this region. However, non-odontogenic fissural cysts have been found in skulls from this region infrequency commensurate with their appearance today. This provides evidence to substantiate the hypothesis that nonodontogenic fissural defects, occult and gross, were present in the region's aborigines. Lesions similar to those discussed and illustrated here as nonodontogenic cysts, are to be found in other skeletal collections, some interpreted as dental abscesses or tumors. Abnormalities located in the lines of facial fusion in other skeletal collections need reassessment.
Osborne and co-workers and Pruzansky showed that in 18.8% of 207 patients upper cervical spine and skull base anomalies accompanied palatopharyngeal incompetence (247,265,266). Warkany noted this association also (342-908). Atlanto-occipital area radiographs of present day South Dakota Native Americans with congenital velopharyngeal defects have not been available for comparison with these results, to help resolve our questions relating to the association frequency between palato-facial and basicranial deformities.
Contrary to Morse's findings in Illinois Indian skeletons (225-32), fusion of the first cervical vertebra to the skull base was quite common in Dakota Teritory skeletons. In addition, paracondyloid processes with and without atlanto-occipital fusion were common. These findings suggest a genetic difference in basicranium formation between the two skeletal populations.
An explanation why overt inborn anomalies have been found only infrequently in ancient skeletons from North America may lie in an observation by Morton (227-7):
"The singular absence of physical deformity has been noted by all travelers. Such defects as arise in childhood are, for obvious reasons, less likely to happen in savage than in civilised life. But on the other hand, the variouscongenital defects probably occur in an equal ratio in both conditions; but it is well known that the Indians destroy such of their children as labor under these misfortunes, on the plea that they would be helpless, and of course dependent members of the community. This kind of infanticide is an almost universal usage among the barbarous tribes, who attribute physical deformity to the workings of an evil spirit, and children of delicate and unpromising constitutions often suffer the same fate."
However, this opinion was disputed by Catlin (72-13):
"Some writers upon whom the world has relied for a correct account of the customs of the American Indians, have assigned as the cause of the almost entire absence of mental and physical deformities amongst these people, that they are in the habit of putting to death all who are thus afflicted; but such is not only an unfounded and unjust, but disgraceful assumption on the part of those by whom the opinions of the world have been led; for on the contrary, in every part of the very few cases of the kind, which I have met or could hear of, amongst two millions of these people, these unfortunate creatures were not only supplied and protected with extraordinary care and sympathy, but were in all cases guarded with a superstitious care, as the probable receptacles of some important mystery, designed by the Great Spirit, for the undoubted benefit of the families or Tribes to which they belonged.
During the Dry Bones research we assumed that individuals born in this region in the past with obvious or debilitating congenital defects may not have reached community cemeteries and their skeletons never will be found. The question arose, how could the frequency of non-represented anomalies be estimated?
The greatest number of inborn anomalies today involve soft tissue, and are occult and unrecognized during life. Soft tissue defects were lost in most Dakota Territory burials, but the skeleton sans soft tissue displayed bone abnormalities present in life but not sufficient to preclude survival. The best method to estimate the prevalence of ancient skeletal anomalies was to compare the frequency and location of occult anomalies in old skeletons with information about people today, and with anatomic specimens for which there was confirmatory clinical information (364).
By cautious extrapolation between information regarding inborn anomalies today and findings in skeletons with provenience, it was possible to estimate with reasonable accuracy the nature and frequency of anomalies in people who lived here in the past.
The Dry Bones studies of human skeletons led us to the inescapable conclusion that the location and frequency of inborn anomalies, especially in the cranio-facial area, may not have changed appreciably in the Upper Missouri Basin during the past millennium.
Wet Bones, Dry Bones.
USD Craniofacial Anomalies Team.
Special bibliography.
Information in this book came from a number of sources that originally were far removed from paleopathology. Questions raised by findings in clinical practice and in non-supported field clinics (audiology, dentistry, medicine, speech pathology) led to the assembly of data presented here.
While the contributed investigative effort that spawned the Wet Bones and later the Dry Bones projects (Ch. 3, Epilogue) was in progress, it became obvious that a significant number of individuals with craniofacial anomalies (CFA) were receiving less than optimum followup service.
To coordinate treatment for individuals with CFA, in 1962 the volunteer University of South Dakota Cleft Lip Cleft Palate Diagnostic Team (later The USD Craniofacial Anomalies Team) began operation. Prior to that time supervision of care for individuals with these anomalies was the bailiwick of the State Health Officer, who had many other duties to perform. This team later became a function of the State Health Department.
A mobile effort was required because personnel and facilities were polarized 400 miles (640 km) apart at east and west ends of a state with widely scattered population. Personnel, facilities, and funding were limited during the development phase, so primary emphasis was upon patient service. Early field observations and birth certificate data suggested that CFA were increasing in this state, and were more frequent in American Indians (1). Corroboratory evidence was compiled in Montana (2).
In 1984 the opportunity came to assess the CFA situation statewide, and with it the necessity for accurate demographic data. Reasons for a detailed assessment were: 1. to evaluate activities of the CFA Team longitudinally; 2. to examine epidemiological patterns statewide, seeking commonalities and differences that might aid the service program, and allow development of preventive measures.
The validity of the state's Certificate of Birth information was questionable, primarily due to under reporting. On birth certificates filed 1970 through 1983, no abnormality was reportedfor 79/389 (20.3%) individuals born with obvious facial clefts (3).
For many years South Dakota's population remained quite stable: 1960- 681,216; 1970- 666,257 (35,154 nonWhite); 1980- 690,768 (51,099 non-White). In non-census years figures were estimates, limiting accuracy of birth rate data. Hoxever with relative population stability the yearly of births was an expression of the birth rate. An aging population and decreasing number of families reflected emigration from farms, and many young away from the state. Between 1960-1984 47% of resident live births were metropolitan, concentrated in nine cities and their counties (1980 census- 331,802, 48%).
Though South Dakota Vital Statistics contained information about White and non-White, the only significant minority were American Indians (Native Americans, predominately Siouan) who comprised about 6% of the population, but whose reservations occupy 10% of the territory. Despite classification as American Indians, racial admixture is such that few are genetically pure. The relatively stable demographic base made possible longituture is such that few are genetically pure. The longitudinal assessment of facial clefting.
Facial clefts are usually reported to occur in about 1:700 (1.43/1000) live births in the U.S. today. Some observers feel this estimate is too conservative. Accurate data regarding their frequency in South Dakota were not available.
To supplement birth certificate data, interdigitating information concerning over 900 CFA patients, dating to the early 1920s, was obtained from three sources: the State Health Department's Children's Comprehensive Health Care Services (CCHCS); The USD CFA Clinic; and records of practicing clinicians. The best longitudinal data were for twenty five years, 1960-1984, the interval chosen for study. For 529 of 637 facial cleft births during this interval, information from multiple sources supplimented birth certificates.
Facial clefts were recorded palate only (CP) (Standard diagnosis #749.0); lip only (CL) (#749.1); lip and palate (CL+P) (#749.2); and inborn velopharyngeal incompetence (VPI- shortpalate, bifid uvula +/- tendinous raphe/palatal notch, high arched palate). Prior to 1975, when a medical geneticist joined the team, complicated anomalies were identified by team members and referred appropriately for detailed analysis.
1. White births per year dropped sharply during the study interval reaching the lowest point in 1973, then increased slightly (Table 7.8, Fig.7.29). Annual non-White births varied slightly 1960-68, remained stationary to 1975, then increased slowly through 1984. The proportion of non-White births annually increased steadily 1960-84 from 7.4 to 14.2%.
Table 7.8. South Dakota Live Births and Facial Clefts Per Year
Resident__Births Clefts
Non- Rate Non- Rate Rate
_______White____%____White*__%_____Total______White__/1000__White__/1000__Total__/1000_
1960 16304 92.6 1290 7.4 17594 18 1.1 3 2.3 21 1.2
1961 16140 91.9 1411 8.1 17551 10 .6 3 2.1 13 .7
1962 15791 92.0 1367 8.0 17158 15 .9 5 3.7 20 1.2
1963 15293 91.5 1418 8.5 16711 17 1.1 3 2.1 20 1.2
1964 14150 90.5 1477 8.5 15627 25 1.7 3 2.0 28 1.8
1965 12146 89.4 1437 10.6 13584 21 1.7 6 4.1 27 2.0
1966 11212 89.4 1322 10.6 12534 16 1.4 2 1.5 18 1.4
1967 10162 88.9 1262 10.1 11424 22 2.2 5 3.9 27 2.4
1968 10132 88.8 1276 11.2 11408 15 1.5 5 3.9 20 1.8
1969 10111 88.3 1330 11.7 11441 28 2.8 2 1.5 30 2.6
1970 10355 88.4 1362 11.6 11717 37 3.6 3 2.2 40 3.4
1971 10245 88.0 1389 12.0 11634 22 2.1 10 7.2 32 2.7
1972 9510 87.6 1345 12.4 10855 13 1.4 6 4.5 19 1.7
1973**__9354__87.3___1352__12.6____10706 29 3.1 7 5.2 36 3.4
1974 9857 88.2 1318 12.8 11175 18 1.8 11 8.3 29 2.6
1975 9829 87.0 1465 13.0 11294 20 2.0 7 4.8 27 2.4
1976 10145 87.0 1510 13.0 11655 21 2.1 5 3.3 26 2.2
1977 10494 86.9 1575 13.1 12069 21 2.0 3 1.9 24 2.0
1978 10591 86.8 1612 13.2 12203 24 2.3 7 4.3 31 2.5
1979 11398 87.8 1575 12.2 12973 25 2.2 3 1.9 28 2.1
1980 11531 86.9 1725 13.1 13256 21 1.8 8 4.6 29 2.3
1981 11050 86.8 1675 13.2 12725 17 1.5 5 3.0 22 1.7
1982 11089 86.3 1750 13.7 12839 22 2.0 4 2.3 26 2.0
1983 10711 85.5 1810 14.5 12521 15 1.4 5 2.8 20 1.6
1984___10670__85.8___1761__14.2____12431________21____2.0_____3_____1.7____24_____1.9_
Total 288270 88.6 36814 11.4 325,084 513 1.8 124 3.4 637 1.96
* With few exceptions non-white = American Indian.
** Year with the fewest total births.
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2. Beginning in 1961, the yearly total cleft births increased gradually reaching the highest number and rate in 1970, then dropped in 1971-72 (Fig. 7.29). After an increase in 1973 the number fluctuated annually at a higher level through 1982. Numerically, the increase in facial cleft births was greatest in Whites.
3. The number and rate of CFA births varied annually from 13 to 40 (0.7 to 3.4/1000). The largest number were in 1970 and 1973, followed by 1969, 1964, and 1979. The fewest were in 1961 and 1972. The annual CFA rate varied, most noticeably in non-Whites (Fig. 7.30).
4. In 637 clefts, CL only was equally frequent in Whites and non-Whites. CL showed White male preponderance, but was more common in non-White females. The small numbers limit statistical analysis. CP only occurred the same in both sexes and races. CL+P was male predominant throughout, Whites 3:1, non-Whites 2:1, but the number /1000 births was higher in non-Whites (Table 7.9).
5. In 156/529 (29.5%) cleft patients having composite data, multiple malformations, syndromes, and possible chromosomal aberrations were also present.
6. Geographic patterns were not obvious for facial cleft types, but rural areas had the highest rate (Fig. 7.31, Table 7.10). Cleft frequencies in counties over 25 years ranged from none in 1617 births, to 6.04/1000 births. Counties in or bordering the eight Indian reservations usually had higher rates of facial cleft births. This was true especially in the northeastern (Sisseton Reservation) and southwestern (Pine Ridge and Rosebud Reservations) portions of the state. Paradoxically, some counties with very low 25 year cleft rates adjoined those with high rates.
Figure 7.30. South Dakota resident live birth cleft rates by race 1960 through 1984.
Table 7.9. South Dakota Births with Cranio-Facial Anomalies, 1960 through 1984*
LIP only PALATE and LIP PALATE only Velopharyngeal
____(CL)____ ______(CL+P)_______ ____(CP)___ insufficiency
______________R____L___?? _R____L__Bilat.__?? ___Number__ ___Number_______
White
Male 3 17 10 35 69 46 14 85 31
Female______3___11____6 18___34____8_____13 _____84___ _____26_________
6 28 16 53 103 54 27 169 57
Non-White
Male 1 2 - 8 21 11 1 20 4
Female______2____2____2 _8____8____6______3 _____21___ ______4_________
3 4 2 16 29 17 4 41 8
Sub-Total___9___32___18 69__132___71_____31 ____210___ _____65_________
Total 59 303 210 65 = 637
* With few exceptions non-white = American Indian.
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Figure 7.31. South Dakota, rate of clefting by county, 1960-1984.
Table 7.10. South Dakota Births and Facial Clefts in Multi-racial Counties, 1960 through 1984
CLEFTS
Rate
_CO#___County________Births______White_____%____Non-White__%_____Total__/1000_
03 Bennett 1929 5 62 3 38 8 4.1
06 Brown 16559 19 95 1 5 20 1.2
07 Brule 2981 - - 2 100 2 .7
08 Buffalo 1463 - - 5 100 5 3.4
11 Charles Mix 5471 8 61 5 39 13 2.4
13 Clay 5191 8 88 1 12 9 1.7
15 Corson 3600 1 9 10 91 11 3.0
16 Custer 2066 2 66 1 33 3 1.4
17 Davison 8162 9 90 1 10 10 1.2
20 Dewey 3797 3 33 6 66 9 2.4
23 Fall River 3423 2 66 1 33 3 .9
26 Gregory 2876 9 90 1 10 10 3.5
32 Hughes 6717 12 75 4 25 16 2.4
35 Jackson/ 1889 4 44 5 56 9 4.7
Washabaugh
38 Kingsbury 2783 4 80 1 20 5 1.8
42 Lyman 2235 5 63 3 37 8 3.6
45 Marshall 2280 10 91 1 9 11 4.8
46 Meade 7977 16 94 1 6 17 2.1
47 Mellette 1491 2 22 7 78 9 6.0
49 Minnehaha 47201 93 99 1 1 94 2.0
51 Pennington 41060 68 89 8 11 76 1.8
54 Roberts 5810 6 40 9 60 15 2.6
56 Shannon 8162 - - 22 100 22 2.7
60 Todd 5334 - - 12 100 12 2.2
61 Tripp 4042 5 55 4 45 9 2.2
64 Walworth 3478 3 43 4 57 7 2.0
66 Yankton 8160 16 94 1 6 17 2.1
_67____Ziebach_______1607___________-______-________4____100_______4_____2.5_
Total 207,744 310 71 124 29 434 2.1
In the remaining 38 counties (117,340 live births) there were an additional
203 White cleft children.
Jackson and Washabaugh counties were combined during the interval covered
by this study and are presented as a single entity.
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7. Verbal pedigrees were available for 506 nuclear families of 529/637 clefted individuals for whom his- torical information was available. Usually it was not feasable to examine families, leaving the possibility of undetected clefts, especially VPI, or other anomalies. In 104 families (20%) other cleft problems were in nuclear families or extended family through first cousin level. Clefts existed in 26 parents (2 with multiple affected offspring), and 6 grandparents. The cohort included 17 cousins, and 29 others were found upon inquiry. Nineteen individuals had one or more affected aunt or uncle.
8. No calendar trends were apparent that might relate time of conception other cause for facial anomaly.
9. Information regarding fetal exposure to possible teratogens was limited. More than forty South Dakota women who bore children with facial anomalies were exposed during the first trimester of pregnancy to agents that might disturb early intrauterine development. Twenty-one children referred to the team had clefts and other malformations attributable to maternal alcoholism during pregnancy (FAS/FAE). All but one were American Indians.
Table 7.11. Craniofacial Anomalies In Upper Midwestern United States
State_________Interval__Births ___CL____ __CL+P___ ___CP____ V_P_defect Total Annual
No._/1000 No._/1000 No._/1000 No._/1000_ No.__/1000 rate_range
Iowa* 1970-84 657286 219 .33 364 .55 280 .42 NA - 863 1.31 .99-1.65
Minnesota* 1967-84 1130059 423 .37 579 .51 467 .41 NA - 1469 1.29 .98-1.79
Montana* 1981-85 57042 22 .38 24 .42 29 .51 NA - 75 1.31 .98-1.58
North Dakota** 1979-84 73153 31 .42 54 .74 34 .46 NA - 119 1.62 1.42-2.20
Nebraska*** 1974-84 281386 86 .30 191 .68 170 .60 NA - 447 1.58 1.22-2.16
South Dakota# 1960-84 325084 59 .18 303 .93 210 .64 65 .20 637 1.96 .70-3.40
Wyoming* 1968-84 128879 - - - - - - NA - 211 1.64 .88-3.53
* Birth certificate data (B C D).
** B C D plus Crippled Children's records.
*** B C D plus hospital reports, death certificate data.
# B C D plus multiple information sources.
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Figure 7.32. Composite graph of cleft rates per 1000 births in upper midwesten United States, 1960-1984.
Elements in these results warranting further investigation were: 1. the annual birth pattern 1960-84; 2. the number and rate of cleft births yearly; 3. cleft types; 4. frequency of anomaly association; 5. geographic distribution; 6. pedigrees; 7. calendar patterns for cleft births; 8. teratogen exposure in early pregnancy. All could have different racial expression.
Different data processing techniques complicated comparison of data with contiguous states, and reports from elsewhere. Birth certificate information only came from Iowa (4,5), Minnesota (6), Montana (7), Nebraska (8) (1964-73), and Wyoming (9). After 1973 North Dakota (10) and Nebraska (8) used combined data. Information about pregnancy, pedigree, geographic pattern, seasonal variation, and teratogen expo- sure was limited or unavailable from surrounding states.
1. Births per year. In all states bordering South Dakota except Wyoming, and in the United States, births per year decreased after 1960, reaching the lowest number in 1973. Findings were identical in Finland (11,12). The subsiding WW-II baby boom and altered socio-economic conditions are considerations, but use of birth control measures seemed a better explanation. The unchanged non-White annual birth pattern in South Dakota during this interval suggests that whatever slowed White births did not affect non-Whites equally.
2. Annual number and rate of face cleft births. Regional CFA birth patterns showed intra- and interstate variations (Figure 7.32). In 1970, the year with South Dakota's most CFA births (N= 40, 3.4/1000), rates in surrounding states were: Wyoming- 2.04, Minnesota- 1.79, Nebraska- 1.41, Iowa-1.30, and Montana-1.00. In 1973, South Dakota had 36 (3.4/1000), while others' were: Wyoming- 3.53, Nebraska- 2.81, Montana- 1.60, Minnesota- 1.56, and Iowa- 1.40. In 1961 South Dakota's CFA births were fewest (N= 13, 0.7/1000), Iowa's rate was 1.45 and Montana's 1.7.
In Finland, the incidence of clefts rose with yearly variations from 1.31 in 1948-52 to 2.16 in 1965-75, a corrected rise of 1% per year. CP incidence 1948-52 (0.78) increased to 1.21 in 1969-75. CL+/- P incidence rose 0.53-0.95 during the same interval. Submucous CP (13.8%) increased from 0.08 1848-52 to 0.19 in 1969-75. Norway's highest (1969, 1973) and lowest (1972) CFA birth years were the same as Filand's (11). The annual cleft birth rates reported by the CDC Malformation Surveillance program, Finland, Iceland, Liverpool, and South Dakota are in Figure 7.33.
Findings reported in other recent craniofacial anomaly epidemiological studies (Table 7.12) varied considerably (11,12,13,15,16,17,18,19,20,21).
Facial anomalies in 28,000+ Navajo live births included CL-15, CP-10, and cleft uvula-45, with varable rate /1000 births (1961- 3.80, '62-1.28, '63- 2.89, '64- 2.25, '65- 2.26, '66- 1.79, '67- 3.33, overall 2.50) (22).
In King County, Washington, 1956-65, the incidence rate for clefts was 1.84/1000 births; in Indians it was 3.40, but the number of Indian births was small. Neither significant yearly variation nor increased number with time were apparent (23).
Iceland's annual cleft rate ranged from 1.84-3.80/1000 1954-66. The greatest number were in 1955, 1958, and 1963; the fewest in 1954,1957, 1961, and 1965 (14).
In the United States the two-year moving average curve 1970-80 (birth certificate data) for CP fluctuated from 0.48-0.58, with increases in 1973 and 1977-78, and a decrease 1975-76. Cleft lip +/- palate was 0.9-1.3, with slight increase in 1972-73 (CDC Congenital Malformations Surveillance, 1982, Fig. 8, p. 13).
3. Cleft type. Table 7.11 shows the long term facial cleft patterns regionally. In upper midwestern United States CL/1000 births ranged from 0.18 in South Dakota to 0.42 in North Dakota. CL+P varied from Montana's low (0.42) to 1.93 in Wyoming. CP ranged from 0.41 in Minnesota to 0.64 in South Dakota. The number of clefts by sex and type in South Dakota are in Table 7.9, but are not available elsewhere regionally.
4. Associated anomalies. Comprehensive information relating to the frequency of other anomaliesor syn- dromes accompanying facial clefting was not available regionally.
Associated malformations, syndromes, or chromosomal disorders were in 7% of Puerto Rican cleft patients (16); 16% of Liverpool clefts accompanied syndromes or multiple anomalies (15);12% of South West England CFA had other anomalies (24); and in Manitoba 21.3% of clefts had syndromes or malformation complexes (18). One or more malformations were in 27.7% of Seattle clefts (23).
Most of 1,000 cleft patients analyzed by Shprintzen and co-workers (25) had other anomalies; CL-45%, CL+P- 53%, overt CP- 68%, submucous CP- 77%. Short stature, microcephaly, and mental retardation were common, most often in CP only, least in CL only. Craniofacial anomaly associations were most common.
About half the patients with multiple anomalies had syndromes, sequences, or associations, and the others had apparent one of a kind syndromes found during physical examination. They opined that associated anomalies in CFA individuals are much under-reported.
5. Geographic_distribution. Regionally, information was not available to compare with South Dakota's cleft localization patterns.
Rural Western Australia experienced twice the expected frequency of CL+P in August and October, and of all reported malformations, only CL+P showed rural excess (17a,17b). Other studies showed no consistent geographic localization (14,16,19,24,26,27).
6. Pedigrees. Family pattern information for CFA was not available regionally.
Population homogeneity, and excellent medical and geneological records in Iceland facilitated assessment of facial cleft pedigrees. Complete pedigrees for 217/313 cleft probands included 8644 close relatives. Fifty-four relatives had cleft lip +/- palate (6.247/1000); the general population incidence was 2.5/1000. All CP pro-band groups' relatives exceeded the general population CP rate, the parents by 26+ times, siblings by 25 times, and nephews, nieces, uncles and aunts by 4 times (14). In other studies family history and pedegree were variable (18,19,21,24,27).
7. Calendar trends. Pertinent information was unavailable regionally. No consistent patterns emerged from other studies (11,12,23,26).
8. Teratogen contact and exogenous factors. Information from surrounding states was not available.
Finnish investigators could not accept accumulation of hereditary factors alone as adequate explanation for the rapid increase in frequency of clefting in that country, and postulated the effect of exogenous factors (11,12). The same conclusion was reached in Liverpool (15); in addition, a link between facial clefts and mothers using anticonvulsant drugs for epilepsy was established for 4.4% of CL, 3% of CL+P, and 0.6% of CP.
In South Dakota, we are aware of 6/529 mothers who bore CFA children and used anticonvulsants during pregnancy.
Simultaneous decreasing birth numbers, increasing facial cleft numbers, and birth regulation, specifically exogenous sex hormones, invite speculation about a correlation, but recent evidence is conflicting (28,29). Although congenital malformations have been attributed to many factors, Kalter and Warkany state that the cause for the majority of such defects is still unknown (30,31).
Except for American Indians South Dakota's roots are mostly north European, the population divided almost equally rural and metropolitan. In 25 years there were slightly more rural births. During this interval facial clefts occurred in 1:510 South Dakota resident live births (1.95/1000), a higher ratio than in surrounding states, and more than in many other places. At least some of the difference in ratios is attributable to better ascertainment in South Dakota.
The greatest number were White; in 18 of 25 years the highest rate was in non-Whites; the highest total rate was non-White (3.4/1000). Annual rates fluctuated, more vigorously in non-Whites, with asynchronous yearly rates in the two races. The largest number of CFA births reflected population density, but specific areas had high annual and 25 year rates, attributable to racial factors.
The number of births annually declined regionally and in several parts of the world 1960-1973. Several factors influenced this process, birth regulatory measures being a large contributor. During the interval birth numbers were declining, in some places the frequency of facial cleft births increased. The annual number and rate of CFA followed fluctuating patterns in several of the United States and in other countries, with many similarities. The most pronounced regional annual cleft rate fluctuations were in Montana, Nebraska, South Dakota, and Wyoming. Internationally, Iceland, Finland, and South Dakota had the largest annual cleft rate variation.The rate periodicity did not coincide exactly in reports from different regions, better ascertainment undoubtedly influencing the results. At present the reasons for the annual variations in several portions of the world remain unexplained, but very important. The varying patterns suggest the effect of factors other than genetics alone upon early facial embryogenesis. It is difficult to reconcile the decreasing South Dakota births and increasing cleft frequency 1960-73 as purely coincidental, especially when similar findings were in other places. Although a relationship might be speculated between CFA and birth control, specifically use of exogenous sex hormones, recent evidence is indecisive. This phenomenon is not explained by this study, and warrants further investigation.
Our finding of correlation between CFA and syndromes or other anomalies in 156/637 individuals is higher than many studies, but lower than Shprintzen and co-workers (25). Most likely this represents under identification by us due to the time span involved, methods employed, and definitions used. A review of old patients for mental retardation, learning disabilities, and syndromes recognized after our original data collection, undoubtedly would increase the multiple anomalies total.
Positive pedigrees for about 20% of cleft patients here are similar to findings in other studies, but fewer than in Iceland. Ascertainment variables are important in the difference.
Statistical and geographic findings in this study showing a high facial cleft rate in American Indians emphasizes the racial element. However, many epidemiological details, especially in Indians, are unexplained.
To us, the variable annual cleft frequency here and elsewhere, suggests environmental influences during early embryogenesis.
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Markup by Larry Zimmerman, 1/4/98
